Abstract
OBJECTIVE: To determine the molecular nature of the neurological disease in the seminal family reported by Critchley et al in the 1960s, characterized by a hyperkinetic movement disorder and the appearance of acanthocytosis on peripheral blood smear. The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion. DESIGN: DNA analysis. SETTING: Molecular biology research laboratories. PARTICIPANTS: First- and second-degree relatives of the original Critchley et al proband from Kentucky. MAIN OUTCOME MEASURES: Mutations in the VPS13A gene. RESULTS: A mutation was identified in the VPS13A gene, responsible for autosomal recessive chorea-acanthocytosis. Haplotype reconstruction suggested that this mutation was homozygous in the proband. CONCLUSION: These findings strongly support the diagnosis of chorea-acanthocytosis as the disorder described in the original report.